ClinVar Miner

Submissions for variant NM_000038.6(APC):c.341del (p.Pro114fs)

dbSNP: rs1064793021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482971 SCV000564558 pathogenic not provided 2015-01-06 criteria provided, single submitter clinical testing This deletion of one nucleotide in APC is denoted c.341delC at the cDNA level and p.Pro114LeufsX11 (P114LfsX11) at the protein level. The normal sequence, with the base that is deleted in brackets, is GTTC[C]TATG. The deletion causes a frameshift, which changes a Proline to a Leucine at codon 114, and creates a premature stop codon at position 11 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. APC c.341delC, previously reported as 340delC, has been reported in an individual with attenuated FAP (Fostira 2010). we consider this variant to be pathogenic.
Ambry Genetics RCV002455907 SCV002612851 pathogenic Hereditary cancer-predisposing syndrome 2022-09-28 criteria provided, single submitter clinical testing The c.341delC pathogenic mutation, located in coding exon 3 of the APC gene, results from a deletion of one nucleotide at nucleotide position 341, causing a translational frameshift with a predicted alternate stop codon (p.P114Lfs*11). In one study, this alteration was identified in 49-year-old patient who was classified as having attenuated FAP, with a personal history of 50-100 colorectal polyps (Fostira F et al. BMC Cancer, 2010 Jul;10:389). In addition, this mutation is also designated as c.340delC in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003337281 SCV004043284 pathogenic Familial adenomatous polyposis 1 2023-04-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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